학술논문
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'학술논문'
에서 검색결과 339건 | 목록
1~20
Academic Journal
Qiao, Ying ; Bagheri, Hani ; Tang, Flamingo ; Badduke, Chansonette ; Martell, Sally ; Lewis, Suzanne M.E. ; Robinson, Wendy ; Connolly, Mary B. ; Arbour, Laura ; Rajcan-Separovic, Evica
In European Journal of Medical Genetics February 2019 62(2):103-108
Academic Journal
American Journal of Medical Genetics Part A. :439-440
Academic Journal
Jessica R. Saunders; Anna Lehman; Stuart E. Turvey; Jie Pan; Evica Rajcan-Separovic; Aleixo M. Muise; Jonathan W. Bush
Journal of Clinical Immunology. 39:616-619
Academic Journal
Daniel Benjamin, Callaghan; Sanja, Rogic; Powell Patrick Cheng, Tan; Kristina, Calli; Ying, Qiao; Robert, Baldwin; Matthew, Jacobson; Manuel, Belmadani; Nathan, Holmes; Chang, Yu; Yanchen, Li; Yingrui, Li; Franz-Edward, Kurtzke; Boris, Kuzeljevic; An Yi, Yu; Melissa, Hudson; Amy J M, Mcaughton; Yuchen, Xu; Alexandre, Dionne-Laporte; Simon, Girard; Ping, Liang; Evica Rajcan, Separovic; Xudong, Liu; Guy, Rouleau; Paul, Pavlidis; M E Suzanne, Lewis
Clinical Genetics. 96:199-206
Academic Journal
Cancer Genetics and Cytogenetics. 114(1):71-74
Academic Journal
Lowther, C.; Mehrjouy, M.M.; Collins, R.L.; Bak, M.C.; Dudchenko, O.; Brand, H.; Dong, Z.; Rasmussen, M.B.; Gu, H.; Weisz, D.; Nazaryan-Petersen, L.; Fjorder, A.S.; Mang, Y.; Lind-Thomsen, A.; Mendez, J.M.M.; Calle, X.; Chopra, A.; Hansen, C.; Bugge, M.; Broekema, R.V.; Varilo, T.; Luukkonen, T.; Engelen, J.; Vianna-Morgante, A.M.; Fonseca, A.C.S.; Mazzeu, J.F.; Dornelles-Wawruk, H.; Abe, K.T.; Vermeesch, J.R.; Van Den Bogaert, K.; Sismani, C.; Aristidou, C.; Evangelidou, P.; Schinzel, A.A.; Sanlaville, D.; Schluth-Bolard, C.; Kalscheuer, V.M.; Wenzel, M.; Kim, H.-G.; Õunap, K.; Roht, L.; Midyan, S.; Bonaglia, M.C.; Lindstrand, A.; Eisfeldt, J.; Ottosson, J.; Nilsson, D.; Pettersson, M.; Bastos, E.F.; Rajcan-Separovic, E.; Silan, F.; Sheth, F.J.; Novelli, A.; Frengen, E.; Fannemel, M.; Strømme, P.; Vokač, N.K.; Daumer-Haas, C.; Moretti-Ferreira, D.; de Souza, D.H.; Ramos-Arroyo, M.A.; Igoa, M.M.; Angelova, L.; Kroisel, P.M.; del Rey, G.; Vieira, T.A.P.; Lewis, S.; Hao, W.; Drabova, J.; Havlovicova, M.; Hancarova, M.; Sedláček, Z.; Vogel, I.; Hjortshøj, T.D.; Møller, R.S.; Tümer, Z.; Fagerberg, C.; Ousager, L.B.; Schönewolf-Greulich, B.; Lauridsen, M.; Piard, J.; Pebrel-Richard, C.; Jaillard, S.; Ehmke, N.; Stefanou, E.G.; Marta, C.; György, K.; Dalal, A.; Dutta, U.R.; Shukla, R.; Lonardo, F.; Zuffardi, O.; Houge, G.; Misceo, D.; Baig, S.M.; Midro, A.; Wawrusiewicz-Kurylonek, N.; Carreira, I.M.; Melo, J.B.; Martinez, L.R.; Guitart, M.; Lovmar, L.; Gullander, J.; Hansson, K.B.M.; de Almeida Esteves, C.; Akkari, Y.; Batanian, J.R.; Li, X.; Lespinasse, J.; Silahtaroglu, A.; Harding, C.H.; Krogh, L.N.; Taylor, J.; Lehnert, K.; Hill, R.; Snell, R.G.; Samson, C.A.; Jacobsen, J.C.; Levy, B.; Clark, O.A.; Toylu, A.; Nur, B.; Mihci, E.; O’Keefe, K.; Mohajeri-Stickels, K.; Wilch, E.S.; Kammin, T.; Piña-Aguilar, R.E.; Nalbandian, K.; Temel, S.G.; Sag, S.O.; Turkgenc, B.; Kamath, A.; Ruiz-Herrera, A.; Banka, S.; Schilit, S.L.P.; Currall, B.B.; Yachelevich, N.; Galloway, S.; Chung, W.K.; Raskin, S.; Maya, I.; Orenstein, N.; Gilad, N.K.; Flamenbaum, K.R.; Hay, B.N.; Morton, C.C.; Liao, E.; Choy, K.W.; Gusella, J.F.; Jacky, P.; Aiden, E.L.; Bache, I.; Talkowski, M.E.; Tommerup, N.; da Cruz, A.D.; Kulikowski, L.D.; Novo Filho, G.M.; Melaragno, M.I.; Vazharova, R.V.; Bradinova, I.; Chitayat, D.; Barisic, I.; Mekkawy, M.M.; Agnes, G.; Pellestor, F.; Dupont, C.; Lebbar, A.; Belaud-Rotureau, M.-A.; Philippe, J.; Pampanos, A.A.; Kitsiou-Tzeli, S.; Kardara, K.; Kasturirangan, C.G.; Kanakavalli, M.; Kandukuri, L.R.; Oruganti, V.P.; Madon, P.F.; Faradz, S.M.H.; Giardino, D.; Larizza, L.; Recalcati, M.P.; Dalpà, L.; Sala, E.; Kurahashi, H.; Aleksiūnienė, B.; Utkus, A.; Ankathil, R.; Tan, S.C.; Kurpisz, M.; Sousa, A.B.; Travessa, A.M.R.; Plaseska-Karanfilska, D.; Abdulwahed, O.A.; Zagorac, A.; Bafalliu-Vidal, J.A.; Lopez-Exposito, I.; Soler-Sanchez, G.; Vera-Carbonell, A.; Kristoffersson, U.; Filges, I.; Charalsawadi, C.; Aslanger, A.D.; Cingöz, S.; Dundar, M.; Wolff, D.J.
Lowther, C, Mehrjouy, M M, Collins, R L, Bak, M C, Dudchenko, O, Brand, H, Dong, Z, Rasmussen, M B, Gu, H, Weisz, D, Nazaryan-Petersen, L, Fjorder, A S, Mang, Y, Lind-Thomsen, A, Mendez, J M M, Calle, X, Chopra, A, Hansen, C, Bugge, M, Broekema, R V, Varilo, T, Luukkonen, T, Engelen, J, Vianna-Morgante, A M, Fonseca, A C S, Mazzeu, J F, Dornelles-Wawruk, H, Abe, K T, Vermeesch, J R, Van Den Bogaert, K, Sismani, C, Aristidou, C, Evangelidou, P, Schinzel, A A, Sanlaville, D, Schluth-Bolard, C, Kalscheuer, V M, Wenzel, M, Kim, H-G, Õunap, K, Roht, L, Midyan, S, Bonaglia, M C, Lindstrand, A, Eisfeldt, J, Ottosson, J, Nilsson, D, Pettersson, M, Bastos, E F, Rajcan -Separovic , E , Silan, F, Sheth, F J, Novelli, A, Frengen, E , Fannemel, M, Strømme, P, Vokač, N K, Daumer-Haas, C, Moretti-Ferreira, D, de Souza, D H, Ramos-Arroyo, M A, Igoa, M M, Angelova, L, Kroisel, P M, del Rey, G, Vieira, T A P, Lewis, S, Hao, W, Drabova, J, Havlovicova, M, Hancarova, M, Sedláček, Z, Vogel, I, Hjortshøj, T D, Møller, R S, Tümer, Z, Fagerberg, C, Ousager, L B, Schönewolf-Greulich, B, Lauridsen, M, Piard, J, Pebrel-Richard, C, Jaillard, S, Ehmke, N, Stefanou, E G, Marta, C, György, K, Dalal, A, Dutta, U R, Shukla, R, Lonardo, F, Zuffardi, O, Houge, G, Misceo, D, Baig, S M, Midro, A, Wawrusiewicz-Kurylonek, N, Carreira, I M, Melo, J B, Martinez, L R, Guitart, M, Lovmar, L, Gullander, J, Hansson, K B M, de Almeida Esteves, C, Akkari, Y, Batanian, J R, Li, X, Lespinasse, J, Silahtaroglu, A, Harding, C H, Krogh, L N, Taylor, J, Lehnert, K, Hill, R, Snell, R G, Samson, C A, Jacobsen, J C, Levy, B, Clark, O A, Toylu, A, Nur, B, Mihci, E , O’Keefe, K, Mohajeri-Stickels, K, Wilch, E S, Kammin, T, Piña-Aguilar, R E , Nalbandian, K, Temel, S G, Sag, S O, Turkgenc, B, Kamath, A, Ruiz-Herrera, A, Banka, S, Schilit, S L P, Currall, B B, Yachelevich, N, Galloway, S, Chung, W K, Raskin, S, Maya, I, Orenstein, N, Gilad, N K, Flamenbaum, K R, Hay, B N, Morton, C C, Liao, E , Choy, K W, Gusella, J F, Jacky, P, Aiden, E L, Bache, I, Talkowski, M E , Tommerup, N, da Cruz, A D, Kulikowski, L D, Novo Filho, G M, Melaragno, M I, Vazharova, R V, Bradinova, I, Chitayat, D, Barisic, I, Mekkawy, M M, Agnes, G, Pellestor, F, Dupont, C, Lebbar, A, Belaud-Rotureau, M-A, Philippe, J, Pampanos, A A, Kitsiou-Tzeli, S, Kardara, K, Kasturirangan, C G, Kanakavalli, M, Kandukuri, L R, Oruganti, V P, Madon, P F, Faradz, S M H, Giardino, D, Larizza, L, Recalcati, M P, Dalpà, L, Sala, E , Kurahashi, H, Aleksiūnienė, B, Utkus, A, Ankathil, R, Tan, S C, Kurpisz, M, Sousa, A B, Travessa, A M R, Plaseska-Karanfilska, D, Abdulwahed, O A, Zagorac, A, Bafalliu-Vidal, J A, Lopez-Exposito, I, Soler-Sanchez, G, Vera-Carbonell, A, Kristoffersson, U, Filges, I, Charalsawadi, C, Aslanger, A D, Cingöz, S, Dundar, M & Wolff, D J 2022, 'Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders', medRxiv. https://doi.org/10.1101/2022.02.15.22270795
Academic Journal
Ying Qiao; Chansonette Badduke; Flamingo Tang; David Cowieson; Sally Martell; Suzanne M. E. Lewis; Maria S. Peñaherrera; Wendy P. Robinson; Allen Volchuk; Evica Rajcan‐Separovic
American Journal of Medical Genetics Part A. 173:1782-1791
Academic Journal
Zufferey, F; Sherr, E. H; Beckmann, N. D; Hanson, E; Maillard, A. M; Hippolyte, L; Macé, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W. A; Goin-Kochel, R. P; Grant, E; Harewood, L; Hunter, J. V; Lebon, S; Ledbetter, D. H; Martin, C. L; Männik, K; Martinet, D; Mukherjee, P; Ramocki, M. B; Spence, S. J; Steinman, K. J; Tjernage, J; Spiro, J. E; Reymond, A; Beckmann, J. S; Chung, W. K; Jacquemont, S; Addor, M. C; Arveiler, B; Belfiore, M; Bena, F; Bernardini, L; Blanchet, P; Bonneau, D; Boute, O; Callier, P; Campion, D; Chiesa, J; Cordier, M. P; Cuisset, J. M; David, A; De Leeuw, N; De Vries, B; Didelot, G; Doco-Fenzy, M; Bedu, B. D; Dubourg, C; Dupuis-Girod, S; Fagerberg, C. R; Faivre, L; Fellmann, F; Fernandez, B. A; Fisher, R; Flori, E; Goldenberg, A; Heron, D; Holder, M; Hoyer, J; Isidor, B; Jaillard, S; Jonveaux, P; Joriot, S; Journel, H; Kooy, F; le Caignec, C; Leheup, B; Lemaitre, M. -P; Lewis, S; Malan, V; Mathieu-Dramard, M; Metspalu, A; Morice-Picard, F; Mucciolo, M; Oiglane-Shlik, E; Ounap, K; Pasquier, L; Petit, F; Philippe, A; Plessis, G; Prieur, F; Puechberty, J; Rajcan-Separovic, E; Rauch, A; Renieri, A; Rieubland, C; Rooryck, C; Rötzer, K. M; Ruiter, M; Sanlaville, D; Selmoni, S; Shen, Y; Siffredi, V; Thonney, J; Vallée, L; Van Binsbergen, E; Van der Aa, N; Van Haelst, M. M; Vigneron, J; Vincent-Delorme, C; Vittoria, D; Vulto-Van Silfhout, A. T; Witwicki, R. M; Zwolinski, S. A; Bowe, A; Beaudet, A. L; Brewton, C. M; Chu, Z; Dempsey, A. G; Evans, Y. L; Garza, S; Kanne, S. M; Laakman, A. L; Lasala, M. W; Llorens, A. V; Marzano, G; Moss, T. J; Nowell, K. P; Proud, M. B; Chen, Q; Vaughan, R; Berman, J; Blaskey, L; Hines, K; Kessler, S; Khan, S. Y; Qasmieh, S; Bibb, A. L; Paal, A. M; Page, P. Z; Smith-Packard, B; Buckner, R; Burko, J; Cavanagh, A. L; Cerban, B; Snow, A. V; Snyder, L. G; Keehn, R. M; Miller, D. T; Miller, F. K; Olson, J. E; Triantafallou, C; Visyak, N; Atwell, C; Benedetti, M; Fischbach, G. D; Greenup, M; Packer, A; Bukshpun, P; Cheong, M; Dale, C; Gobuty, S. E; Hinkley, L; Jeremy, R. J; Lee, H; Luks, T. L; Marco, E. J; Martin, A. J; McGovern, K. E; Nagarajan, S. S; Owen, J; Paul, B. M; Pojman, N. J; Sinha, T; Swarnakar, V; Wakahiro, M; Alupay, H; Aaronson, B; Ackerman, S; Ankenman, K; Elgin, J; Gerdts, J; Johnson, K; Reilly, B; Shaw, D; Stevens, A; Ward, T; Wenegrat, J; Roberts, T. P. L.
J Med Genet
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of Medical Genetics, vol 49, iss 10
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of Medical Genetics, vol 49, iss 10
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Academic Journal
Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sébastien; Talkowski, Michael E.; Katsanis, Nicholas; Reymond, Alexandre; Witwicki, Robert; Didelot, Gérard; van der Werf, Ilse; Alfaiz, Ali A.; Zazhytska, Marianna; Chrast, Jacqueline; Macé, Aurélien; Bergmann, Sven; Kutalik, Zoltan; Siffredi, Vanessa; Zufferey, Flore; Martinet, Danielle; Bena, Frédérique; Rauch, Anita; Bouquillon, Sonia; Delobel, Bruno; Boute, Odile; Duban-Bedu, Bénédicte; Le Caignec, Cédric; Isidor, Bertrand; Chiesa, Jean; Keren, Boris; Gilbert-Dussardier, Brigitte; Touraine, Renaud; Campion, Dominique; Thambo, Caroline Rooryck; Mathieu-Dramard, Michèle; Plessis, Ghislaine; Kooy, Frank; Peeters, Hilde; Ounap, Katrin; Vulto-van Silfhout, Anneke T.; de Vries, Bert B.; van Binsbergen, Ellen; Nordgren, Ann; Mucciolo, Mafalda; Renieri, Alessandra; Rajcan-Separovic, Evica; Philipps, John A.; Ellis, Richard J.
16p11.2 European Consortium 2015, 'A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology', American journal of human genetics, vol. 96, no. 5, pp. 784-96. https://doi.org/10.1016/j.ajhg.2015.04.002
American Journal of Human Genetics, 96, 5, pp. 784-96
American journal of human genetics
American Journal of Human Genetics, 96, 5, pp. 784-96
American journal of human genetics
Academic Journal
Y, Qiao; C, Tyson; M, Hrynchak; E, Lopez-Rangel; J, Hildebrand; S, Martell; C, Fawcett; L, Kasmara; K, Calli; C, Harvard; X, Liu; J J A, Holden; S M E, Lewis; E, Rajcan-Separovic
Clinical Genetics. 83:145-154
Academic Journal
Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M.; Roche, Laurian; Lal, Dennis; Nürnberg, Peter; Sander, Thomas; Lerche, Holger; Neubauer, Bernd; Zimprich, Fritz; Mörzinger, Martina; Feucht, Martha; Suls, Arvid; Weckhuysen, Sarah; Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Van Dyck, Tine; Deconinck, Tine; De Jonghe, Peter; Møller, Rikke S; Klitten, Laura L.; Hjalgrim, Helle; Møller, Rikke S; Campus, Kiel; Helbig, Ingo; Muhle, Hiltrud; Ostertag, Philipp; von Spiczak, Sarah; Stephani, Ulrich; Nürnberg, Peter; Sander, Thomas; Trucks, Holger; Elger, Christian E.; Kleefu-Lie, Ailing A.; Kunz, Wolfram S.; Surges, Rainer; Gaus, Verena; Janz, Dieter; Sander, Thomas; Schmitz, Bettina; Rosenow, Felix; Klein, Karl Martin; Reif, Philipp S.; Oertel, Wolfgang H.; Hamer, Hajo M.; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Koeleman, Bobby P.C.; de Kovel, Carolien; Lindhout, Dick; Lindhout, Dick; Ameil, Agnès; Andrieux, Joris; Bouquillon, Sonia; Boute, Odile; de Flandre, Jeanne; Cuisset, Jean Marie; Cuvellier, Jean-Christophe; Salengro, Roger; David, Albert; de Vries, Bert; Delrue, Marie-Ange; Doco-Fenzy, Martine; Fernandez, Bridget A.; Heron, Delphine; Keren, Boris; Lebel, Robert; Leheup, Bruno; Lewis, Suzanne; Mencarelli, Maria Antonietta; Mignot, Cyril; Minet, Jean-Claude; Moerman, Alexandre; Morice-Picard, Fanny; Mucciolo, Mafalda; Ounap, Katrin; Pasquier, Laurent; Petit, Florence; Ragona, Francesca; Rajcan-Separovic, Evica; Renieri, Alessandra; Rieubland, Claudine; Sanlaville, Damien; Sarrazin, Elisabeth; Shen, Yiping; van Haelst, Mieke; Silfhout, Anneke Vulto-van
Human Molecular Genetics. Nov 15, 2014 23(22):6069-6080
Academic Journal
Qiao, Ying; Mondal, Kajari; Trapani, Valentina; Wen, Jiadi; Carpenter, Gillian; Wildin, Robert; Price, Magda E.; Gibbons, Richard J.; Eichmeyer, Jennifer; Jiang, Ruby; DuPont, Barbara; Martell, Sally; Lewis, Suzanne M. E.; Robinson, Wendy P.; OʼDriscoll, Mark; Wolf, Federica I.; Zwick, Michael E.; Rajcan-Separovic, Evica
Human Mutation. Jan 01, 2014 35(1):58-62
Academic Journal
Qiao, Y; Tyson, C; Hrynchak, M; Lopez-Rangel, E; Hildebrand, J; Martell, S; Fawcett, C; Kasmara, L; Calli, K; Harvard, C; Liu, X; Holden, J JA; Lewis, S ME; Rajcan-Separovic, E
Clinical Genetics. Feb 01, 2013 83(2):145-154
Conference
Tommerup, N.; Jacky, P.; Kim, H.; Batanian, J.; Akkari, Y.; de Almeida, C.; Silan, F.; Schinzel, A.; Guitart, M.; Martinez, L. R.; Ramos-Arroyo, M.; Kokalj-Vokac, N.; Travessa, A.; Engelen, J.; Fannemel, M.; Novelli, A.; Bonaglia, C.; Sheth, F.; Czako, M.; Stefanou, E.; Daumer-Haas, C.; Ehmke, N.; Kalscheuer, V.; Beneteau, C.; Lespinasse, J.; Roht, L.; Ounap, K.; Bojesen, A.; Vogel, I.; Brondum-Nielsen, K.; Fagerberg, C.; Sedlacek, Z.; Aristidou, C.; Sismani, C.; Rajcan-Separovic, E.; Angelova, L.; Moretti-Ferreira, D.; Abe, K.; Vienna-Morgante, A.; Vermeesch, J.; Midyan, S.; Kroisel, P.; Bache, I.; Halgren, C.; Rasmussen, M.; Mehrjouy, M.; Fonseca, A.; Bak, M.
Conference
Travessa, A.; Engelen, J.; Fannemel, M.; Novelli, A.; Bonaglia, C.; Sheth, F.; Czako, M.; Stefanou, E.; Daumer-Haas, C.; Ehmke, N.; Kalscheuer, V.; Beneteau, C.; Lespinasse, J.; Roht, L.; Ounap, K.; Bojesen, A.; Vogel, I.; Brondum-Nielsen, K.; Fagerberg, C.; Sedlacek, Z.; Aristidou, C.; Sismani, C.; Rajcan-Separovic, E.; Angelova, L.; Moretti-Ferreira, D.; Abe, K. T.; Fonseca, A.; Vienna-Morgante, A.; Vermeesch, J.; Midyan, S.; Kroisel, P.; Halgren, C.; Bache, I.; Rasmussen, M.; Mehrjouy, M.; Tommerup, N.; Bak, M.; Jacky, P.; Kim, H.; Batanian, J.; Akkari, Y.; de Almeida, C.; Silan, F.; Schinzel, A.; Guitart, M.; Martinez, L. R.; Ramos-Arroyo, M.; Kokalj-Vokac, N.
Academic Journal
Eva M. Reinthaler; Dennis Lal; Sebastien Lebon; Michael S. Hildebrand; Hans-Henrik M. Dahl; Brigid M. Regan; Martha Feucht; Hannelore Steinböck; Birgit Neophytou; Gabriel M. Ronen; Laurian Roche; Ursula Gruber-Sedlmayr; Julia Geldner; Edda Haberlandt; Per Hoffmann; Stefan Herms; Christian Gieger; Melanie Waldenberger; Andre Franke; Michael Wittig; Susanne Schoch; Albert J. Becker; Andreas Hahn; Katrin Männik; Mohammad R. Toliat; Georg Winterer; Holger Lerche; Peter Nürnberg; Heather Mefford; Ingrid E. Scheffer; Samuel F. Berkovic; Jacques S. Beckmann; Thomas Sander; Sebastien Jacquemont; Alexandre Reymond; Fritz Zimprich; Bernd A. Neubauer; Bernd Neubauer; Martina Mörzinger; Arvid Suls; Sarah Weckhuysen; Lieve Claes; Liesbet Deprez; Katrien Smets; Tine Van Dyck; Tine Deconinck; Peter De Jonghe; Rikke S Møller; Laura L. Klitten; Helle Hjalgrim; Kiel Campus; Ingo Helbig; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Ulrich Stephani; Holger Trucks; Christian E. Elger; Ailing A. Kleefuß-Lie; Wolfram S. Kunz; Rainer Surges; Verena Gaus; Dieter Janz; Bettina Schmitz; Felix Rosenow; Karl Martin Klein; Philipp S. Reif; Wolfgang H. Oertel; Hajo M. Hamer; Felicitas Becker; Yvonne Weber; Bobby P.C. Koeleman; Carolien de Kovel; Dick Lindhout; Agnès Ameil; Joris Andrieux; Sonia Bouquillon; Odile Boute; Jeanne de Flandre; Jean Marie Cuisset; Jean-Christophe Cuvellier; Roger Salengro; Albert David; Bert de Vries; Marie-Ange Delrue; Martine Doco-Fenzy; Bridget A. Fernandez; Delphine Heron; Boris Keren; Robert Lebel; Bruno Leheup; Suzanne Lewis; Maria Antonietta Mencarelli; Cyril Mignot; Jean-Claude Minet; Alexandre Moerman; Fanny Morice-Picard; Mafalda Mucciolo; Katrin Ounap; Laurent Pasquier; Florence Petit; Francesca Ragona; Evica Rajcan-Separovic; Alessandra Renieri; Claudine Rieubland; Damien Sanlaville; Elisabeth Sarrazin; Yiping Shen; Mieke van Haelst; Anneke Vulto-van Silfhout
16p11.2 European Consortium, EPICURE Consortium, The EuroEPINOMICS Consortium & Møller, R S 2014, ' 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ', Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080 . https://doi.org/10.1093/hmg/ddu306
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
HUMAN MOLECULAR GENETICS
Human molecular genetics
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
HUMAN MOLECULAR GENETICS
Human molecular genetics
Academic Journal
Krzyzewska, I. M.; Maas, S. M.; Henneman, Peter; Lip, K. V. D.; Venema, A.; Baranano, K.; Chassevent, A.; Aref-Eshghi, E.; Essen, A. J. van; Fukuda, T.; Ikeda, H.; Jacquemont, M.; Kim, H. G.; Labalme, Audrey; Lewis, S. M.; Lesca, Gaetan; Madrigal Bajo, Irene; Mahida, S.; Matsumoto, N.; Rabionet Janssen, Raquel; Rajcan-Separovic, E.; Qiao, Y.; Sadikovic, B.; Saitsu, H.; Sweetser, D. A.; Alders, M.; Mannens, M. M. A. M.
Clin Epigenetics
CLINICAL EPIGENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Dipòsit Digital de la UB
Universidad de Barcelona
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Paediatrics Publications
CLINICAL EPIGENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Dipòsit Digital de la UB
Universidad de Barcelona
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Paediatrics Publications
Academic Journal
Qiao, Y; Riendeau, N; Koochek, M; Liu, X; Harvard, Chansonette; Hildebrand, M J; Holden, J J A; Rajcan-Separovic, E; Lewis, M E S
Journal of Medical Genetics. Oct 01, 2009 46(10):680-688
Academic Journal
Tyson, C.; Dawson, A. J.; Bal, S.; Tomiuk, M.; Anderson, T.; Tucker, D.; Riordan, D.; Chudoba, I.; Morash, B.; Mhanni, A.; Chudley, A. E.; McGillivray, B.; Parslow, M.; Rappold, G.; Roeth, R.; Fawcett, C.; Qiao, Y.; Harvard, C.; Rajcan-Separovic, E.
American Journal Of Medical Genetics - A. Mar 01, 2009 149A(3):490-495
Academic Journal
Malenfant, Patrick; Liu, Xudong; Hudson, Melissa L.; Qiao, Ying; Hrynchak, Monica; Riendeau, Noémie; Hildebrand, Jeannette M.; Cohen, Ira L.; Chudley, Albert E.; Forster-Gibson, Cynthia; R. Mickelson, Elizabeth C.; Rajcan-Separovic, Evica; Lewis, Suzanne M.E.; A. Holden, Jeanette J.
Journal of Autism and Developmental Disorders. Jul 01, 2012 42(7):1459-1469
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